What are the other Names for this Condition? (Also known as/Synonyms)
- Bean Syndrome
- Blue Rubber Bleb Syndrome
- BRBNS (Blue Rubber Bleb Nevus Syndrome)
What is Blue Rubber Bleb Nevus Syndrome? (Definition/Background Information)
- Blue Rubber Bleb Nevus Syndrome (BRBNS) is a very rare condition in which there are a number of vascular malformations on the skin and other internal organs of the body (such as the gastrointestinal tract or brain)
- The signs and symptoms of skin are usually detected at birth, while the presence of vascular abnormalities is usually diagnosed later in one’s life
- Since, any part of the body may be affected, Blue Rubber Bleb Nevus Syndrome can lead to serious complications such as internal bleeding, bleeding into the joints, or even bleeding into the brain resulting in a stroke
- In majority of cases, Blue Rubber Bleb Nevus Syndrome occurs in a random manner, while few cases are known to run in families. Nevertheless, the cause of BRBNS is unknown
- The treatment is undertaken based on the location of the formations and the organs affected. Blue Rubber Bleb Nevus Syndrome can range in severity from mild to severe, and the prognosis is dependent upon the number and location of the vascular malformations
Who gets Blue Rubber Bleb Nevus Syndrome? (Age and Sex Distribution)
- Blue Rubber Bleb Nevus Syndrome (BRBNS) generally manifests at birth. The vascular malformations are observed on the skin at birth, but those affecting the internal organs may be recognized much later in one’s life
- However, BRBNS is observed very infrequently and approximately only 200 cases have been reported worldwide
- Both males and females are affected and there is no gender bias observed
- All racial and ethnic groups are at risk, but this condition is more frequent in Caucasians
What are the Risk Factors for Blue Rubber Bleb Nevus Syndrome? (Predisposing Factors)
- Currently, no risk factors are identified for Blue Rubber Bleb Nevus Syndrome (BRBNS)
- However, in some cases, a positive family history of BRBNS is observed
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What is the Cause of Blue Rubber Bleb Nevus Syndrome? (Etiology)
The cause of Blue Rubber Bleb Nevus Syndrome (BRBNS) is unknown.
- Most times, BRBNS occurs in a sporadic fashion; though in some cases, a family history of the condition is seen. In such familial cases, there is an autosomal dominant pattern of inheritance
- Research has shown abnormalities on chromosome 9
- BRBNS was recently found to be caused by double (cis) somatic activating TEK mutations
Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly functioning gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.
What are the Signs and Symptoms of Blue Rubber Bleb Nevus Syndrome?
The presentations, which are typically observed at birth, may be based on the location of the vascular malformations that occur in Blue Rubber Bleb Nevus Syndrome. Since many organs and body systems may be affected, a host of signs and symptoms may be observed, which include:
- These vascular malformations can occur anywhere in the body (multifocal occurrence) as small blebs (blisters on the skin), and the symptoms can be related to the organs where these blebs are present
- One of the prominent symptoms is the presence of vascular abnormality in the gastrointestinal (GI) tract, which can result in severe bleeding. This severe internal bleeding may result in:
- Black tarry stools (melena)
- And even the presence of fresh blood (sometimes)
- The presence of vascular blebs in the eye may result in vision-related signs and symptoms
- The presence of vascular blebs in the brain may result in neurological signs and symptoms
- If the vascular malformations occur in the joint spaces, bleeding into the joints can cause:
- Joint pain
- Swelling of the joints
- Restriction of the joint movement
How is Blue Rubber Bleb Nevus Syndrome Diagnosed?
Blue Rubber Bleb Nevus Syndrome is diagnosed through the following tools:
- Complete physical examination with evaluation of medical history
- Imaging studies of the affected region
- GI endoscopic studies
- Genetic testing in case of a family history of BRBNS
- Tissue biopsy: A tissue biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
What are the possible Complications of Blue Rubber Bleb Nevus Syndrome?
The complications from Blue Rubber Bleb Nevus Syndrome could include:
- The presence of vascular malformations in the GI tract can increase the risk of complications such as intestinal torsion, necrosis of intestinal mucosa, intestinal bleeding, intestinal perforation, and volvulus
- Bleeding into the brain can result in a stroke
- Ulceration of the lesions resulting in abscess formation
- If large tumors involve the internal organs, it may affect their proper function
- Damage to vital nerves, blood vessels, and surrounding structures during surgery to remove the tumor
How is Blue Rubber Bleb Nevus Syndrome Treated?
The treatment measures for Blue Rubber Bleb Nevus Syndrome include:
- Surgical excision and removal of the vascular tumors, when it is possible to remove them
- Arterial embolization of the tumor is used to provide temporary relief from the symptoms, and reduce blood loss during ‘tumor removal’ surgical procedure
- Post-operative care is important, until the surgical wound heals
- Post-operative follow-up care with regular screening and check-ups are important
How can Blue Rubber Bleb Nevus Syndrome be Prevented?
Current medical research has not established a method of preventing Blue Rubber Bleb Nevus Syndrome.
- If there is a family history of BRBNS, then genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
- In such cases, genetic counseling will help assess risks, before planning for a child
- Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Blue Rubber Bleb Nevus Syndrome
What is the Prognosis of Blue Rubber Bleb Nevus Syndrome? (Outcomes/Resolutions)
- The prognosis of Blue Rubber Bleb Nevus Syndrome depends upon the severity of the signs and symptoms, the numbers, sizes, and locations of the vascular lesions, and it can be highly variable
- Fatalities may arise, if there is severe bleeding in the GI tract or brain resulting in a massive stroke
- The outcome is generally good, if the symptoms are mild and there are lesser number of small-sized tumors that do not affect any major organs
Additional and Relevant Useful Information for Blue Rubber Bleb Nevus Syndrome:
The following DoveMed website link is a useful resource for additional information: